Global Variome shared LOVD

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Phenotype #0000115943 Individual ID 00133661 Associated disease PCH9 Phenotype details Microcephaly (HP:0000252), cerebellar hypoplasia (HP:0001321), hypoplasia of the pons (HP:0012110), aplasia/Hypoplasia of the corpus callosum (HP:0007370), abnormality of brainstem morphology (HP:0002363), motor delay (HP:0001270), muscular hypotonia of the trunk (HP:0008936), intellectual disability (HP:0001249), spasticity (HP:0001257) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Fanny Kortüm Database submission license No license selected Created by Fanny Kortüm Date created 2017-11-29 13:16:57 +01:00 (CET) Date last edited 2017-11-30 11:07:13 +01:00 (CET)

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